Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Recruiting

• Conditions: Aortic Aneurysm; Aortic Dissection; Aortic Diseases

• Registration Number: NCT04005976
• Lead Sponsor: The University of Texas Health Science Center, Houston

Brief Summary

The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with mutations in known heritable thoracic aortic disease (H-TAD) genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers of H-TAD.

Detailed Description

The MAC will provide the infrastructure to assemble large cohorts of patients with mutations in known H-TAD genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers and other biomarkers of H-TAD. Recruitment of large numbers of patients world-wide will improve the precision of data used to predict disease risks. Retrospective and prospective study designs will be used to fully characterize the different stages of H-TAD (i.e. susceptibility, presymptomatic, and symptomatic) and other complications associated with the H-TAD genes, and examine clinical and environmental factors that define risk of aortic dissections. The data from MAC will provide the critical clinical information for precise management of thoracic aortic disease and other complications caused by mutations of these genes and improve the medical management and outcome of patients with genetically triggered, lethal vascular diseases.

Study Timeline

• Study Start: 2016-04-29
• Study First Submitted: 2019-07-01
• Study First Submitted QC: 2019-07-01
• Study First Posted: 2019-07-02
• Status Verified: 2023-05
• Last Update Submitted: 2023-05-09
• Last Update Posted: 2023-05-11
• Primary Completion: 2037-01-01
• Study Completion: 2037-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 5000

Inclusion Criteria

• Patients and their relatives with a confirmed pathogenic, likely pathogenic variant, or variant of unknown clinical significance in at least one of the H-TAD genes (i.e. TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, and FBN1).
• Patients of all ages, sex and race for which informed consent can be obtained.

Exclusion Criteria

• Patients without a confirmed causative variant for H-TAD.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of participants with aortic dissection	20 years	Aortic Dissection
Number of participants with aortic dilation	20 years	Aortic dilation
Rate of aortic growth	20 years	Aortic diameter
Number of participants with aortic aneurysm requiring repair	20 years	Aortic repair
Number of participants who died due to an aortic dissection/rupture or postoperative complications	20 years	Mortality due to aortic disease

Trial Locations

Locations (1)

The University of Texas Health Science Center at Houston; 🇺🇸 Houston, Texas, United States